Novel manifestations of Farber disease mimicking neuronopathic Gaucher disease
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DOI: 10.1136/bcr-2020-240742
Abstract: Diagnosis of rare disorders requires heightened clinical acumen. When such disorders present with atypical or novel features, it adds to the diagnostic challenge. A 9-month-old female infant who had received a diagnosis of neonatal hepatitis… read more here.
Keywords: manifestations farber; farber disease; gaucher disease; disease ... See more keywords
Pathological manifestations of Farber disease in a new mouse model
Sign Up to like & getrecommendations! Published in 2018 at "Biological Chemistry"
DOI: 10.1515/hsz-2018-0170
Abstract: Abstract Farber disease (FD) is a rare lysosomal storage disorder resulting from acid ceramidase deficiency and subsequent ceramide accumulation. No treatments are clinically available and affected patients have a severely shortened lifespan. Due to the… read more here.
Keywords: mouse model; new mouse; mouse; farber disease ... See more keywords